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The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz, Christian J; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A.
Afiliação
  • Hendriksz CJ; a Salford Royal NHS Foundation Trust , Manchester , UK.
  • Anheim M; b University of Pretoria , Pretoria , South Africa.
  • Bauer P; c University of Strasbourg , Hautepierre Hospital , Strasbourg , France.
  • Bonnot O; d Institute of Medical Genetics and Applied Genomics, Tübingen University , Tübingen, Germany.
  • Chakrapani A; e CENTOGENE AG , Rostock , Germany.
  • Corvol JC; f CHU and University of Nantes , Nantes , France.
  • de Koning TJ; g Great Ormond St Hospital for Children , London , UK.
  • Degtyareva A; h Sorbonne University , UPMC and Hôpital Pitié-Salpêtrière, Department of Nervous System Diseases , Paris , France.
  • Dionisi-Vici C; i University of Groningen , Groningen , the Netherlands.
  • Doss S; j Federal State Budget Institution, Research Center for Obstetrics , Gynecology and Perinatology , Moscow , Russia.
  • Duning T; k Bambino Gesù Children's Hospital , Rome , Italy.
  • Giunti P; l Charite University Medicine Berlin , Department of Neurology , Berlin , Germany.
  • Iodice R; m Münster University Hospital , Münster, Germany.
  • Johnston T; n University College London, Institute of Neurology , London , UK.
  • Kelly D; o University Federico II Naples , Naples , Italy.
  • Klünemann HH; p Birmingham Women's Hospital , Birmingham , UK.
  • Lorenzl S; q Birmingham Children's Hospital , Birmingham , UK.
  • Padovani A; r University Clinic for Psychiatry and Psychotherapy, Regensburg University , Regensburg , Germany.
  • Pocovi M; s Ludwig Maximillian University , Munich , Germany.
  • Synofzik M; t Paracelus Medical University , Salzburg , Austria.
  • Terblanche A; u Neurology Unit, Department of Clinical and Experimental Sciences , University of Brescia , Brescia , Italy.
  • Then Bergh F; v University of Zaragoza , IISA, Zaragoza , Spain.
  • Topçu M; w Department of Neurodegenerative Diseases , Hertie Institute for Clinical Brain Research , Tübingen, Germany.
  • Tranchant C; x German Center for Neurodegenerative Diseases (DZNE) , Tübingen, Germany.
  • Walterfang M; b University of Pretoria , Pretoria , South Africa.
  • Velten C; y University of Leipzig , Department of Neurology , Leipzig , Germany.
  • Kolb SA; z Hacettepe University Children's Hospital , Ankara , Turkey.
Curr Med Res Opin ; 33(5): 877-890, 2017 May.
Article em En | MEDLINE | ID: mdl-28276873
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras / Doença de Niemann-Pick Tipo C Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras / Doença de Niemann-Pick Tipo C Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article